On 17 March, researchers from the Netherlands published an article on the impact of diagnostic genetic testing for familial dementia in the journal Alzheimer's Research & Therapy. The study found that diagnostic genetic testing was generally well tolerated by patients and relatives, with average anxiety, depression and distress levels remaining below the clinical threshold, but it also identified emotional, relational and practical consequences for families.
The researchers carried out a mixed-methods study involv-ing 31 patients who met eligibility criteria for genetic testing as part of their diagnostic work-up at Alzheimer Center Am-sterdam. 25 patients tested negative and 6 tested positive. The study included 26 patients and 29 relatives, who com-pleted questionnaires at the first visit, one week after coun-selling, and one week and three months after disclosure of results. In addition, eight patients and 10 relatives took part in 13 semi-structured interviews.
Anxiety levels were lower after disclosure in patients and, at one time point, in relatives. Patients who received a positive result reported lower social support at baseline and were less likely over time to discuss genetic testing with others. They were also more likely to report having registered for research participation. Decision regret was low and did not differ by group. Interviews showed that negative results often brought relief that children were not at genetic risk, although some uncertainty about the cause of disease re-mained. Positive results brought emotional distress about implications for children but were also valued for the clarity they provided. As this was an exploratory study, the authors stated that the findings should be interpreted cautiously and validated in future research. The article has been published open access and can be read here:
https://link.springer.com/article/10.1186/s13195-026-02000-z
